ClinVar Miner

Submissions for variant NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) (rs201550522)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000611439 SCV001000056 likely benign Hereditary pancreatitis 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023514 SCV001185412 benign Inborn genetic diseases 2015-01-07 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Integrated Genetics/Laboratory Corporation of America RCV001174692 SCV001337944 likely benign not specified 2020-01-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000611439 SCV000734544 benign Hereditary pancreatitis no assertion criteria provided clinical testing

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